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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHST14

Variant:p.R139_I141del0

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CHST14

NM_130468.4:p.R139_I141del0

hg38:chr15:40471627 GCGCCACATC>G

Associated Papers

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.

Miyake N et al.

Advances in Experimental Medicine and Biology, 2014

24443026 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."